Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918673
rs121918673
HNF1B
0.810 GeneticVariation UNIPROT Recommendations from the EGAPP Working Group: does genomic profiling to assess type 2 diabetes risk improve health outcomes? 23492873

2013
dbSNP: rs121918673
rs121918673
HNF1B
0.810 GeneticVariation UNIPROT Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 22962670

2012
dbSNP: rs121918673
rs121918673
HNF1B
0.810 GeneticVariation UNIPROT The S465R mutation was found in 0.5% of our patients with common type 2 diabetes and thus may be a rare genetic risk factor contributing to the development of type 2 diabetes rather than MODY5. 12161522

2002
dbSNP: rs121918673
rs121918673
HNF1B
0.810 GeneticVariation BEFREE The S465R mutation was found in 0.5% of our patients with common type 2 diabetes and thus may be a rare genetic risk factor contributing to the development of type 2 diabetes rather than MODY5. 12161522

2002
dbSNP: rs121918673
rs121918673
HNF1B
C 0.810 CausalMutation CLINVAR